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25 results on '"George J. G. Ruijter"'

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1. Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity

2. Monitoring phenylalanine concentrations in the follow‐up of phenylketonuria patients: An inventory of pre‐analytical and analytical variation

3. AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

4. Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders

5. The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases

6. Isobutyryl-CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing

7. Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity

8. Preclinical Efficacy and Safety Evaluation of Hematopoietic Stem Cell Gene Therapy in a Mouse Model of MNGIE

9. Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB

10. Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure

11. Mucolipidosis type III, a series of adult patients

12. Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria

13. First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?

14. A long term follow-up study of the development of hip disease in Mucopolysaccharidosis type VI

15. Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype

16. Properties ofAspergillus nigercitrate synthase and effects ofcitA overexpression on citric acid production

17. Residual alpha-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients

18. Hemoglobin precipitation greatly improves 4-methylumbelliferone-based diagnostic assays for lysosomal storage diseases in dried blood spots

19. Mucopolysaccharidosis Type IIID: 12 New Patients and 15 Novel Mutations

20. Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands

21. Sanfilippo syndrome: a mini-review

22. Congenital disorder of glycosylation type Ia presenting with hydrops fetalis

23. Carbon repression in Aspergilli

25. Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS

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